Pemphigus hereditary ( epidermolysis bullosa )

August 12, 2017 17:52 | Genetic Diseases

Hereditary pemphigus - a large (over 20 options) a group of non-inflammatory diseases characterized by skin and mucous tendency to develop blisters, especially in the field of mechanical injuries, even minor (friction, pressure, intake of solid food).The disease is genetically heterogeneous, inherited as an autosomal recessive and an autosomal dominant manner.

main feature of the whole group of diseases is the appearance of blisters at the slightest mechanical injury, and not rarely and spontaneously.The disease begins with the first days of life, at least - at a later age.In the neonatal period all forms of the disease is more severe, frequent deaths.Perhaps struck by the entire skin, but in most cases the rash is located on the extremities.In a simple (nerubtsuyuschemsya) epidermolysis bullosa blisters on the skin and oral mucosa heal without scarring.Quite often, especially in the embodiment herpetiformis develops excessive keratinization in the skin of palms and soles.When heavier flowing epidermoly

sis bullosa healed on the spot bubbles develop scars, cysts, erosions healing is slow.Scarring mucous membrane of the mouth tends to limit the mobility of the language, it papillae atrophy, reduction in the size of the oral slit to the mucosa of the esophagus - restrictions to the development of scar in some cases, to the obstruction.The re-emergence of bubbles on the hands and feet leads to the appearance of scar adhesions fingers with subsequent destruction of bone tissue, which is the cause of early disability.Observed changes in dystrophic nails and teeth, retarded growth and development.

prognosis for recovery unfavorable.

Treatment is aimed at eliminating the symptoms of the disease.Appointed by antibacterial preparations, to accelerate healing, vitamin E in large doses, vitamin A in normal dosages.In degenerative forms of the disease - phenytoin twice per day for 8-10 mg / kg body weight for children and 3.5 mg / kg - in adults.Prenatal diagnosis is carried out only in the presence of certain indications.